ClinVar Miner

List of variants in gene CYP24A1 reported as pathogenic for not provided

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser) rs6068812 0.00084
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp) rs114368325 0.00079
NM_000782.5(CYP24A1):c.443T>C (p.Leu148Pro) rs139763321 0.00014
NM_000782.5(CYP24A1):c.475C>T (p.Arg159Trp) rs202070065 0.00008
NM_000782.5(CYP24A1):c.1187G>A (p.Arg396Gln) rs143934667 0.00006
NM_000782.5(CYP24A1):c.964G>A (p.Glu322Lys) rs387907324 0.00004
NM_000782.5(CYP24A1):c.1396C>T (p.Arg466Ter) rs988715134 0.00002
NM_000782.5(CYP24A1):c.1039C>T (p.Gln347Ter) rs777947329 0.00001
NM_000782.5(CYP24A1):c.1147G>C (p.Glu383Gln) rs777011420 0.00001
NM_000782.5(CYP24A1):c.400T>G (p.Trp134Gly) rs1170841548 0.00001
NC_000020.10:g.(?_52773718)_(52790118_?)del
NM_000782.5(CYP24A1):c.1022del (p.Asn341fs)
NM_000782.5(CYP24A1):c.1039del (p.Gln347fs)
NM_000782.5(CYP24A1):c.1084G>T (p.Glu362Ter)
NM_000782.5(CYP24A1):c.1171_1174dup (p.Pro392fs)
NM_000782.5(CYP24A1):c.1199del (p.Lys400fs)
NM_000782.5(CYP24A1):c.1384_1385del (p.Cys462fs)
NM_000782.5(CYP24A1):c.1497_1504del (p.Thr500fs)
NM_000782.5(CYP24A1):c.224G>A (p.Trp75Ter)
NM_000782.5(CYP24A1):c.278del (p.Tyr93fs) rs2146514141
NM_000782.5(CYP24A1):c.312del (p.Phe104fs) rs2146513906
NM_000782.5(CYP24A1):c.425AAG[1] (p.Glu143del) rs777676129
NM_000782.5(CYP24A1):c.449+1G>T
NM_000782.5(CYP24A1):c.449+2T>C
NM_000782.5(CYP24A1):c.491del (p.Lys164fs)
NM_000782.5(CYP24A1):c.62del (p.Pro21fs) rs774432244
NM_000782.5(CYP24A1):c.667A>T (p.Arg223Ter)
NM_000782.5(CYP24A1):c.678del (p.Leu227fs)
NM_000782.5(CYP24A1):c.999_1006del (p.Ser334fs) rs770055617

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